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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_001127214 Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. ORF Sequence $501.99
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Protein Services


RefSeq Version NM_001127214.2, 343168764
Length 3495 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.
Product acyl-CoA synthetase family member 3, mitochondrial precursor
Comment

Summary: This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011].


Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same protein.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.


##Evidence-Data-START## Transcript exon combination :: AK290963.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025091 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_001120686.1
CDS 209..1939
Misc Feature(1)350..1921
Misc Feature(2)407..1720
Exon (1)1..188
Gene:ACSF3
Gene Synonym:ACSF3
Exon (2)189..874
Gene:ACSF3
Gene Synonym:ACSF3
Exon (3)875..1030
Gene:ACSF3
Gene Synonym:ACSF3
Exon (4)1031..1185
Gene:ACSF3
Gene Synonym:ACSF3
Exon (5)1186..1334
Gene:ACSF3
Gene Synonym:ACSF3
Exon (6)1335..1447
Gene:ACSF3
Gene Synonym:ACSF3
Exon (7)1448..1574
Gene:ACSF3
Gene Synonym:ACSF3
Exon (8)1575..1709
Gene:ACSF3
Gene Synonym:ACSF3
Exon (9)1710..1821
Gene:ACSF3
Gene Synonym:ACSF3
Exon (10)1822..3495
Gene:ACSF3
Gene Synonym:ACSF3
Translation MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALV DQHGRHTYRELYSRSLRLSQEICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGG VAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVVRKLGVPLLPLTPAIYTGAVE EPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKL MEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEI GMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEE KEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTG GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNV LAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS
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Position Chain Variation Link
113+dbSNP:
113+c, gdbSNP:145228567
193+dbSNP:
193+a, gdbSNP:141490092
194..195+, cccaggaggctcccgggagdbSNP:11273288
194+c, gdbSNP:115469156
195..196+, cccaggaggctcccgggagdbSNP:67522353
196..197+, ccaggaggctcccgggagcdbSNP:72341591
213+c, tdbSNP:7188200
236+c, tdbSNP:202182978
257+c, gdbSNP:11547019
258+c, tdbSNP:151076945
259+c, gdbSNP:7201122
324+a, gdbSNP:144711526
328+c, tdbSNP:34972688
337+c, tdbSNP:147915828
353+c, tdbSNP:141518662
379+c, tdbSNP:147044602
391+c, gdbSNP:202121474
398+a, gdbSNP:200536797
446+c, tdbSNP:138156311
477+a, gdbSNP:148895267
478+c, tdbSNP:201113468
486+a, tdbSNP:143605434
493+a, gdbSNP:187962814
505+c, tdbSNP:59213357
514+c, tdbSNP:6500526
521+a, gdbSNP:145969050
523+c, tdbSNP:7193255
535+c, tdbSNP:141517318
536+a, gdbSNP:189821127
550+c, gdbSNP:6500527
562+c, tdbSNP:6500528
565+c, tdbSNP:182147718
566+a, gdbSNP:200703917
576..577+, acdbSNP:142006073
577+a, cdbSNP:6500529
595+c, tdbSNP:150050697
599+a, gdbSNP:144411003
600+c, tdbSNP:148768970
619+c, tdbSNP:148969539
632+c, tdbSNP:142575695
664+c, tdbSNP:147899198
731+c, tdbSNP:141612994
753+c, tdbSNP:145470870
769+c, tdbSNP:113731967
808+c, gdbSNP:147597284
825+c, tdbSNP:142038371
833+c, gdbSNP:201953109
841+c, tdbSNP:140941507
880+dbSNP:
880+c, tdbSNP:150374081
897+a, gdbSNP:145583876
929+a, gdbSNP:145141190
936+c, tdbSNP:140986055
946+c, tdbSNP:112722289
951+a, gdbSNP:144818342
964+c, tdbSNP:147718091
1004+a, gdbSNP:141607995
1018+c, tdbSNP:143501853
1060+dbSNP:
1060+a, gdbSNP:183159791
1062+c, tdbSNP:143793502
1064+c, tdbSNP:148146761
1141+a, gdbSNP:150686471
1144+c, tdbSNP:202119269
1161+g, tdbSNP:200352879
1202+dbSNP:
1202+g, tdbSNP:143331932
1204+a, tdbSNP:75591977
1224+c, tdbSNP:140085177
1283+a, gdbSNP:150487794
1289+a, gdbSNP:145285434
1303+c, tdbSNP:148716626
1304+a, gdbSNP:142288136
1308+c, gdbSNP:151006784
1321+c, tdbSNP:201792144
1322+a, gdbSNP:3743979
1325+a, cdbSNP:144907664
1339+dbSNP:
1339+c, tdbSNP:138395741
1342+a, gdbSNP:141088268
1421+a, gdbSNP:189568082
1446+a, tdbSNP:201003194
1459+dbSNP:
1459+g, tdbSNP:3743984
1474+a, gdbSNP:150322170
1509+a, c, gdbSNP:137995833
1542+a, gdbSNP:142092069
1555+a, gdbSNP:12447947
1583+dbSNP:
1583+a, gdbSNP:200029061
1600+a, cdbSNP:200661983
1602+a, gdbSNP:200971130
1606+c, tdbSNP:200146632
1614+a, gdbSNP:144681140
1619+c, tdbSNP:138680796
1644+a, cdbSNP:187733270
1664+a, gdbSNP:192339782
1675+c, gdbSNP:115776284
1678+c, gdbSNP:147538370
1692+a, cdbSNP:140074950
1719+dbSNP:
1719+g, tdbSNP:76528704
1724+a, gdbSNP:141971462
1739+a, gdbSNP:150635495
1770+c, gdbSNP:201022212
1813+a, gdbSNP:139813770
1816+a, gdbSNP:201954387
1829+dbSNP:
1829+c, tdbSNP:149803422
1837+a, gdbSNP:146779456
1851+c, tdbSNP:139520739
1859+g, tdbSNP:143472008
1880+c, tdbSNP:141090143
1881+a, gdbSNP:140328142
1911+c, tdbSNP:142633119
1943+a, gdbSNP:184912682
1946+a, cdbSNP:192297922
1949+c, tdbSNP:199783009
1973+c, gdbSNP:183713754
1982+a, gdbSNP:111251955
1986+c, tdbSNP:201698539
2005+g, tdbSNP:146927450
2012+c, tdbSNP:79800328
2140+c, gdbSNP:199740112
2170+a, gdbSNP:1054747
2204+a, cdbSNP:113165822
2297..2298+, aaatdbSNP:112906978
2297..2298+, aaat, taaadbSNP:140643630
2297+c, tdbSNP:80327222
2298..2299+, aaatdbSNP:71712635
2300..2301+, taaadbSNP:60450866
2301..2302+, taaadbSNP:67332273
2301+g, tdbSNP:76726674
2310+a, gdbSNP:72819317
2342+c, tdbSNP:188803327
2344+c, tdbSNP:151018123
2369+a, gdbSNP:140883127
2378+a, gdbSNP:76940692
2476+a, gdbSNP:150142198
2503+a, gdbSNP:34208235
2584+a, gdbSNP:192866240
2608+a, gdbSNP:62068502
2611+c, gdbSNP:78403542
2855+c, tdbSNP:35730151
2952+c, gdbSNP:75531939
2956+a, gdbSNP:142870821
2977+c, tdbSNP:145040503
3076+c, gdbSNP:144674022
3086+c, tdbSNP:148597914
3103+a, cdbSNP:141974248
3112+a, cdbSNP:61507207
3119+a, gdbSNP:12597637
3194+c, tdbSNP:73256087
3247+c, gdbSNP:187126304
3352+a, gdbSNP:116985242
Gene SymbolACSF3
Gene SynonymACSF3
Chromosome16
Locus Map16q24.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001127214 Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. Full Length $1223.25
ORF Sequence $501.99
NM_001243279 Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA. Full Length $1283.80
ORF Sequence $501.99
NM_174917 Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. Full Length $1282.40
ORF Sequence $501.99
Title The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with germinal center phenotype .
Author Salaverria,I., Akasaka,T., Gesk,S., Szczepanowski,M., Burkhardt,B., Harder,L., Damm-Welk,C., Oschlies,I., Klapper,W., Dyer,M.J. and Siebert,R.
Journal Genes Chromosomes Cancer 51 (4), 338-343 (2012)
Title Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis .
Author Witkowski,A., Thweatt,J. and Smith,S.
Journal J. Biol. Chem. 286 (39), 33729-33736 (2011)
Title Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria .
Author Sloan,J.L., Johnston,J.J., Manoli,I., Chandler,R.J., Krause,C., Carrillo-Carrasco,N., Chandrasekaran,S.D., Sysol,J.R., O'Brien,K., Hauser,N.S., Sapp,J.C., Dorward,H.M., Huizing,M., Barshop,B.A., Berry,S.A., James,P.M., Champaigne,N.L., de Lonlay,P., Valayannopoulos,V., Geschwind,M.D., Gavrilov,D.K., Nyhan,W.L., Biesecker,L.G. and Venditti,C.P.
Journal Nat. Genet. 43 (9), 883-886 (2011)
Title Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype .
Author Alfares,A., Nunez,L.D., Al-Thihli,K., Mitchell,J., Melancon,S., Anastasio,N., Ha,K.C., Majewski,J., Rosenblatt,D.S. and Braverman,N.
Journal J. Med. Genet. 48 (9), 602-605 (2011)
Title Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome .
Author Watkins,P.A., Maiguel,D., Jia,Z. and Pevsner,J.
Journal J. Lipid Res. 48 (12), 2736-2750 (2007)

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